A8D (p.Ala8Asp) variant of APOC2 (Apolipoprotein C-II)
A8D (p.Ala8Asp) in APOC2 (Apolipoprotein C-II) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- gnomAD 19-44948501-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.56
- CADD 20.50
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available